Clinical Characteristics of the BLS Patients and Allo-BMT Outcome
| Features . | Patients . | |
|---|---|---|
| Patient 1 . | Patient 2 . | |
| CID type defective gene | Type III BLS,* RFX5 (group C) | Type III BLS, RFXANK (group B) |
| Age at BMT | 23 mo | 8 mo |
| Donor | HLA-identical sibling | HLA-identical sibling |
| Age donor | 12 yr | 7 yr |
| HLA† type | A2 A3 B51 B50 Cw6 | A2 A11 B18 B51 Cw5 |
| DR4 DR17 DQ2 DQ8 | DR7 DR11 DQ2 DQ7 | |
| Preparative regimen‡ | Bu20/Cy200 | Bu20/Cy200 |
| T-cell depletion | − | − |
| GVHD prophylaxis1-153 | + | + |
| Chimerism1-155 | Mixed | Mixed |
| T | D/R | D |
| B | R/d | R/D |
| NK | R/d | D |
| MM | R/d | D/r |
| Current status | Alive and well >4 yr | Alive and well >1.5 yr |
| Features . | Patients . | |
|---|---|---|
| Patient 1 . | Patient 2 . | |
| CID type defective gene | Type III BLS,* RFX5 (group C) | Type III BLS, RFXANK (group B) |
| Age at BMT | 23 mo | 8 mo |
| Donor | HLA-identical sibling | HLA-identical sibling |
| Age donor | 12 yr | 7 yr |
| HLA† type | A2 A3 B51 B50 Cw6 | A2 A11 B18 B51 Cw5 |
| DR4 DR17 DQ2 DQ8 | DR7 DR11 DQ2 DQ7 | |
| Preparative regimen‡ | Bu20/Cy200 | Bu20/Cy200 |
| T-cell depletion | − | − |
| GVHD prophylaxis1-153 | + | + |
| Chimerism1-155 | Mixed | Mixed |
| T | D/R | D |
| B | R/d | R/D |
| NK | R/d | D |
| MM | R/d | D/r |
| Current status | Alive and well >4 yr | Alive and well >1.5 yr |
Abbreviations: CID, combined immunodeficiency disease; NK, natural killer cells; MM, myeloid/monocytic cells.
Type III BLS: MHC class II-deficiency, with reduced levels of MHC class I expression. The genetic defect of these patients was determined by heterokaryon fusions or by complementation analysis.37
Patient = Donor, HLA-DP typing of these patients/donors was not performed.
Bu20 = total dose of busulfan in mg/kg BW; Cy200 = total dose of cyclophosphamide in mg/kg BW.
GVHD prophylaxis consisted of cyclosporin A 2 mg/kgBW/d intravenously for 1 to 2 months, 6 mg/kg/OS (OS = oral administration) 2 to 6 months after BMT; methotrexate 10 mg/m2 on days +1, +3, +6.
Chimerism determined via FACS-PCR-CA repeat analysis38approximately 1 year after allo-BMT. The predominant origin of the cell populations is given in capital letters, either donor (D) or recipient (R), whereas a minor population (<10%) is indicated in lowercase letters (d or r). If donor and recipient were present in equal amounts, both populations are given in capital letters (R/D).